Alzheimer Disease, Early Onset
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Our findings extend the mutation spectrum of EOAD and underline the clinical heterogeneity among PSEN1 and PSEN2 mutation carriers.
|
30797548 |
2020 |
Alzheimer Disease, Early Onset
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
In addition, a heterozygous p.Arg71Trp mutation in PSEN2 with an uncertain pathogenic nature was identified in a patient with neuropathologically confirmed AD.
|
31127772 |
2019 |
Alzheimer Disease, Early Onset
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Pathogenic variants in the autosomal dominant genes PSEN1, PSEN2, or APP, APOE4 alleles, and rare variants within TREM2, SORL1, and ABCA7 contribute to early-onset Alzheimer's disease (EOAD).
|
31381512 |
2019 |
Alzheimer Disease, Early Onset
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
A pathogenic mutation in the PSEN2 gene in a Korean patient associated with EOAD was identified.
|
30104866 |
2018 |
Alzheimer Disease, Early Onset
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
A subset of early-onset Alzheimer's disease is inherited as an autosomal-dominant trait and is associated with mutations in the genes encoding β-amyloid precursor protein, presenilin 1, or presenilin 2.
|
29175279 |
2018 |
Alzheimer Disease, Early Onset
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
A minority of patients with sporadic early-onset Alzheimer's disease (AD) exhibit de novo germ line mutations in the autosomal dominant genes such as APP, PSEN1, or PSEN2.
|
30114415 |
2018 |
Alzheimer Disease, Early Onset
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
APP, PSEN1, and PSEN2 mutations in early-onset Alzheimer disease: A genetic screening study of familial and sporadic cases.
|
28350801 |
2017 |
Alzheimer Disease, Early Onset
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
We conducted a comprehensive screening of rare coding variants in an African American cohort to identify novel pathogenic mutations within the early-onset Alzheimer's disease (EOAD) genes (APP, PSEN1, and PSEN2) in this understudied population.
|
28106563 |
2017 |
Alzheimer Disease, Early Onset
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
In this case-control study, whole-exome sequencing (WES) was performed in 51 non-Hispanic white (NHW) patients with EOAD (age at onset <65 years) and 19 Caribbean Hispanic families previously screened as negative for established APP, PSEN1, and PSEN2 causal variants.
|
28738127 |
2017 |
Alzheimer Disease, Early Onset
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Using a control exome data set of 96 ethnically matched neurodegenerative disease controls (Parkinson's disease), we identified only 1 variant (PSEN2 p.T18M) (1%), demonstrating a significantly higher mutational burden in the EOAD group (p > 0.0001).
|
26522186 |
2016 |
Alzheimer Disease, Early Onset
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Here we describe a previously unrecognized sequence change (c.376G>A) in PSEN2 in an EOAD patient and her likewise affected mother.
|
24844686 |
2014 |
Alzheimer Disease, Early Onset
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the amyloid precursor protein (APP), presenilin-1 and presenilin-2 genes have been recognized to be the cause of EOAD.
|
25138979 |
2014 |
Alzheimer Disease, Early Onset
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the PSEN1, PSEN2, and APP genes seem to be rare in this population, as these genes exhibited no pathogenic mutations in our cohort of eoAD and FTLD patients even though about 40% of the cases were familial ones.
|
21959359 |
2013 |
Alzheimer Disease, Early Onset
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The families from Fulda, Germany, and the American Volga German families with EOAD share the same N141I PSEN2 mutation on an identical haplotypic background.
|
20457965 |
2010 |
Alzheimer Disease, Early Onset
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
Moreover, the expression of AD-related Aquaporin 1 and presenilin 2 expression was regulated by APP-swe.
|
21034535 |
2010 |
Alzheimer Disease, Early Onset
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Families with early-onset Alzheimer's disease (AD) sharing a single PSEN2 mutation exhibit a wide range of age-at-onset, suggesting that modifier loci segregate within these families.
|
20333730 |
2010 |
Alzheimer Disease, Early Onset
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Mutations in three genes (PSEN1, PSEN2, and APP) have been identified in autosomal dominant forms of EOAD.
|
18387709 |
2009 |
Alzheimer Disease, Early Onset
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
To our knowledge, this is the first German EOAD patient without a Volga-German ancestry and a positive family history for dementia carries the mutation PSEN-2 N141I.
|
19073399 |
2008 |
Alzheimer Disease, Early Onset
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
presenilin-2 is one of the causative genes for familial Alzheimer's disease, and the apolipoprotein E epsilon4 allele is a major genetic risk factor for late-onset and sporadic early-onset Alzheimer's disease.
|
16233903 |
2006 |
Alzheimer Disease, Early Onset
|
0.400 |
Biomarker
|
disease |
CTD_human |
Beta-amyloid mediated nitration of manganese superoxide dismutase: implication for oxidative stress in a APPNLH/NLH X PS-1P264L/P264L double knock-in mouse model of Alzheimer's disease.
|
16651627 |
2006 |
Alzheimer Disease, Early Onset
|
0.400 |
Biomarker
|
disease |
BEFREE |
Mutations in Presenilin 1 (PS1) and Presenilin 2 (PS2) genes account for up to 50% of familial early-onset Alzheimer's disease (EOAD).
|
15119739 |
2004 |
Alzheimer Disease, Early Onset
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The beta-amyloid precursor protein (APP) gene (on chromosome 21), Presenilin 1 (PS1) gene (on chromosome 14) and Presenilin 2 (PS2) gene (on chromosome 1) are responsible for autosomal dominant early-onset Alzheimer's disease (EOAD).
|
15119738 |
2004 |
Alzheimer Disease, Early Onset
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Mutations in presenilin 1, presenilin 2 and amyloid precursor protein genes in patients with early-onset Alzheimer's disease in Poland.
|
14769392 |
2003 |
Alzheimer Disease, Early Onset
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
In cases of early onset Alzheimer's disease mutations of the presenilin genes (PSEN 1 and PSEN 2) and APP can be found.
|
12754354 |
2003 |
Alzheimer Disease, Early Onset
|
0.400 |
Biomarker
|
disease |
CTD_human |
We have found a novel mutation in the PSEN2 gene in a family with early-onset Alzheimer disease.
|
12925374 |
2003 |